(Q47298411)

13 January 2018

title

Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene (English)

1 reference

13 January 2018

author

Sébastien Schmerber

8

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13 January 2018

Christine Petit

17

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13 January 2018

Natalie Loundon

3

Natalie Loundon

1 reference

13 January 2018

Delphine Feldmann

1

Delphine Feldmann

1 reference

13 January 2018

Valérie Drouin-Garraud

14

Valérie Drouin-Garraud

1 reference

13 January 2018

Remy Couderc

6

Remy Couderc

1 reference

13 January 2018

Hélène Catros

12

Hélène Catros

1 reference

13 January 2018

Sandrine Marlin

18

Sandrine Marlin

1 reference

13 January 2018

Eréa-Noel Garabedian

5

Erea-Noel Garabedian

1 reference

13 January 2018

Françoise Denoyelle

2

Françoise Denoyelle

1 reference

13 January 2018

author name string

Dominique Weil

4

1 reference

13 January 2018

Alain Joannard

7

1 reference

13 January 2018

Bruno Delobel

9

1 reference

13 January 2018

Jacques Leman

10

1 reference

13 January 2018

Hubert Journel

11

1 reference

13 January 2018

Claude Ferrec

13

1 reference

13 January 2018

Marie-Françoise Obstoy

15

1 reference

13 January 2018

Lucien Moati

16

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13 January 2018

publication date

1 April 2004

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13 January 2018

European Journal of Human Genetics

published in

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13 January 2018

volume

12

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13 January 2018

issue

4

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13 January 2018

page(s)

279-284

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13 January 2018

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201147

exact match

0 references

cites work

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

Connexin 26 gene linked to a dominant deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

Connexin mutations in deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

High frequency hearing loss correlated with mutations in the GJB2 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

Hearing loss: frequency and functional studies of the most common connexin26 alleles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

The M34T allele variant of connexin 26.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

Genetic analysis of the connexin-26 M34T variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

Prevalent connexin 26 gene (GJB2) mutations in Japanese

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

Connexin26 mutations associated with nonsyndromic hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

Connexin 26 Gene Mutations in Congenitally Deaf Children

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

inferred from DOI database lookup

7 January 2021

based on heuristic

Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

inferred from DOI database lookup

7 January 2021

based on heuristic

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201147

1 reference

13 January 2018

1 reference

13 January 2018